- ... chondrodysplasia, Shwachman type</synonym><synonym >SDS</synonym><synonym >Shwachman syndrome</synonym><synonym >Shwachman-Bodian syndrome</synonym><synonym >Shwachman- ...
- ... to short-term side effect shoulder blade shunt Shwachman syndrome Shwachman-Diamond syndrome sialic acid sialyl Tn-KLH sibling sickle cell ...
- ... NOP10 , PARN , RTEL1 , TERC , TERT , TINF2 , and WRAP53 . Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and other bone marrow failure ... such as Fanconi anemia, severe congenital neutropenia, and Shwachman-Diamond syndrome, or a germline predisposition syndrome that confers higher ...
- ... GI tract, & genital tract). DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome (SDS) AR AD Exocrine pancreatic dysfunction w/malabsorption, ... bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. Br J Haematol. 1999; 107 :49–54. [ PubMed : ...
- ... interacting protein (P14 deficiency) (OMIM 610798 ) Pearson syndrome Shwachman-Diamond syndrome WHIM syndrome (OMIM 193670 ) Wiskott-Aldrich syndrome Management ...
- ... marrow failure syndromes, such as Fanconi anemia and Shwachman-Diamond syndrome. The general characteristics of myeloid leukemias and other ... and WAS variants) and cyclic neutropenia ( ELANE variants). - Shwachman-Diamond ... anemia. - Congenital amegakaryocytic thrombocytopenia ( MPL variants). - ...
- ... See Klein [2011] .) Glycogen storage disease type Ib Shwachman-Diamond syndrome Reticular dysgenesis (OMIM 267500 ) Cartilage-hair hypoplasia Chediak- ... Gene Locus Links Similar articles in PubMed Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
- ... PCCA PCCB AR Progressive encephalopathy Metabolic crises Cardiomyopathy Shwachman-Diamond syndrome DNAJC21 EFL1 SBDS SRP54 AR (AD) Exocrine pancreatic ...
- ... Infarction Pancreaticobiliary Maljunction Pancreatitis, Acute Hemorrhagic Rumination Syndrome Shwachman-Diamond Syndrome C07 Stomatognathic Diseases Mandibular Nerve Injuries C08 Respiratory ...
- ... Infarction - Pancreaticobiliary Maljunction - Pancreatitis, Acute Hemorrhagic - Rumination Syndrome - Shwachman-Diamond Syndrome C07 Stomatognathic Diseases - Mandibular Nerve Injuries C08 Respiratory ...
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